Publication
Title
Short stature, abnormal face, joint laxity, dislocation, hernias, delayed bone age, and severe psychomotor retardation in two brothers: Previously undescribed MCA/MR syndrome
Author
Abstract
We describe two brothers with severe psychomotor retardation, short stature, micro-brachycephaly, flat occiput, ptosis, low set and prominent ears, "beaked" nose, joint hyperlaxity and dislocation, hernias, delayed bone age, and abnormalities on skin biopsy. Their parents are first cousins. To the best of our knowledge, this syndrome has not been reported before. (C) 2001 Wiley-Liss, Inc.
Language
English
Source (journal)
American journal of medical genetics. - New York, N.Y., 1977 - 2002
Publication
New York, N.Y. : 2001
ISSN
0148-7299
Volume/pages
104 :3 (2001) , p. 221-224
ISI
000172353100007
UAntwerpen
Publication type
Subject
External links
Web of Science
Record
Identification
Creation 05.11.2018
Last edited 04.09.2021